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rs1057516951

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516951(A;A)
Make rs1057516951(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position73600350
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs1057516951
dbSNP (classic)rs1057516951
ClinGenrs1057516951
ebirs1057516951
HLIrs1057516951
Exacrs1057516951
Gnomadrs1057516951
Varsomers1057516951
LitVarrs1057516951
Maprs1057516951
PheGenIrs1057516951
Biobankrs1057516951
1000 genomesrs1057516951
hgdprs1057516951
ensemblrs1057516951
geneviewrs1057516951
scholarrs1057516951
googlers1057516951
pharmgkbrs1057516951
gwascentralrs1057516951
openSNPrs1057516951
23andMers1057516951
23andMe allrs1057516951
SNPshotrs1057516951
SNPdbers1057516951
MSV3drs1057516951
GWAS Ctlgrs1057516951
Max Magnitude0
ClinVar
Risk rs1057516951(A;A)
Alt rs1057516951(A;A)
Reference Rs1057516951(G;G)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74310073C>T
CLNSRC
CLNACC RCV000411919.1,